Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM p.Asp1853Asn (p.D1853N)
(
ENST00000452508.7,
ENST00000278616.10,
ENST00000601453.3,
ENST00000675843.1,
ENST00000713844.1 )
ATM p.Asp1853Asn (p.D1853N) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 ) - Associated Disease
- bilateral breast cancer
- Source Database
- DisGeNET
- Description
- Recently, a common ATM variant, ATMivs38 -8T>C in cis with the ATMex39 5557G>A (D1853N) variant, was suggested to associate with bilateral breast cancer among familial breast cancer patients from Northern Finland.
- Pubmed
- 16914028
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2006
Drugs